Canonical Allele Identifier: CA366088656

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443638A>G (hg19) ; chr6:g.152122503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122503A>G , CM000668.2:g.152122503A>G	GRCh38
NC_000006.11:g.152443638A>G , CM000668.1:g.152443638A>G	GRCh37
NC_000006.10:g.152485331A>G	NCBI36
NG_012855.1:g.519897T>C
NG_008493.2:g.470813A>G
NG_012855.2:g.519897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2861T>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu954Pro
ENST00000367255.10:c.26327T>C (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8776Pro
ENST00000423061.6:c.26183T>C (SYNE1)	ENSP00000396024.1:p.Leu8728Pro
ENST00000672154.1:c.1670T>C (SYNE1)
ENST00000672169.1:c.2045T>C (SYNE1)
ENST00000673173.1:c.1912T>C (SYNE1)
ENST00000673451.1:c.2177T>C (SYNE1)	ENSP00000500189.1:n.2177T>C
ENST00000341594.9:c.25112T>C (SYNE1)	ENSP00000341887.6:p.Leu8371Pro
ENST00000347037.9:n.3075T>C (SYNE1)
ENST00000354674.4:c.2861T>C (SYNE1)	ENSP00000346701.4:p.Leu954Pro
ENST00000367251.7:c.5103T>C (SYNE1)	ENSP00000356220.3:n.5103T>C
ENST00000367255.9:c.26327T>C (SYNE1)	ENSP00000356224.5:p.Leu8776Pro
ENST00000367256.9:n.10019T>C (SYNE1)
ENST00000367257.8:c.4206T>C (SYNE1)	ENSP00000356226.4:n.4206T>C
ENST00000409694.6:n.9911T>C (SYNE1)
ENST00000423061.5:c.26183T>C (SYNE1)	ENSP00000396024.1:p.Leu8728Pro
ENST00000427531.6:c.851-2763A>G (ESR1)	ENSP00000394721.2:n.851-2763A>G
ENST00000460912.6:n.2941T>C (SYNE1)
ENST00000478916.5:n.6964T>C (SYNE1)
ENST00000539504.5:c.2792T>C (SYNE1)	ENSP00000441052.1:p.Leu931Pro
NM_033071.3:c.26183T>C (SYNE1)	NP_149062.1:p.Leu8728Pro
NM_182961.3:c.26327T>C (SYNE1)	NP_892006.3:p.Leu8776Pro
XM_006715407.1:c.26474T>C (SYNE1)	XP_006715470.1:p.Leu8825Pro
XM_006715408.1:c.26462T>C (SYNE1)	XP_006715471.1:p.Leu8821Pro
XM_006715409.1:c.26453T>C (SYNE1)	XP_006715472.1:p.Leu8818Pro
XM_006715410.1:c.26432T>C (SYNE1)	XP_006715473.1:p.Leu8811Pro
XM_006715411.1:c.26423T>C (SYNE1)	XP_006715474.1:p.Leu8808Pro
XM_006715412.1:c.26417T>C (SYNE1)	XP_006715475.1:p.Leu8806Pro
XM_006715413.1:c.26405T>C (SYNE1)	XP_006715476.1:p.Leu8802Pro
XM_006715414.1:c.26402T>C (SYNE1)	XP_006715477.1:p.Leu8801Pro
XM_006715415.1:c.26363T>C (SYNE1)	XP_006715478.1:p.Leu8788Pro
XM_006715416.1:c.26348T>C (SYNE1)	XP_006715479.1:p.Leu8783Pro
XM_006715417.1:c.26333T>C (SYNE1)	XP_006715480.1:p.Leu8778Pro
XM_006715420.1:c.26321T>C (SYNE1)	XP_006715483.1:p.Leu8774Pro
XM_006715421.1:c.26318T>C (SYNE1)	XP_006715484.1:p.Leu8773Pro
XM_006715422.1:c.26315T>C (SYNE1)	XP_006715485.1:p.Leu8772Pro
XM_006715423.1:c.*138T>C (SYNE1)	XP_006715486.1:n.*138T>C
XM_006715424.1:c.*138T>C (SYNE1)	XP_006715487.1:n.*138T>C
XM_006715425.1:c.*138T>C (SYNE1)	XP_006715488.1:n.*138T>C
XM_011535641.1:c.26471T>C (SYNE1)	XP_011533943.1:p.Leu8824Pro
XM_011535642.1:c.26459T>C (SYNE1)	XP_011533944.1:p.Leu8820Pro
XM_011535643.1:c.26309T>C (SYNE1)	XP_011533945.1:p.Leu8770Pro
XM_011535644.1:c.24749T>C (SYNE1)	XP_011533946.1:p.Leu8250Pro
XM_011535645.1:c.24242T>C (SYNE1)	XP_011533947.1:p.Leu8081Pro
XM_011535647.1:c.19709T>C (SYNE1)	XP_011533949.1:p.Leu6570Pro
NM_001328100.1:c.851-2763A>G (ESR1)	NP_001315029.1:n.851-2763A>G
NM_001347701.1:c.*138T>C (SYNE1)	NP_001334630.1:n.*138T>C
NM_001347702.1:c.2861T>C (SYNE1)	NP_001334631.1:p.Leu954Pro
XM_006715408.2:c.26462T>C (SYNE1)	XP_006715471.1:p.Leu8821Pro
XM_006715410.2:c.26432T>C (SYNE1)	XP_006715473.1:p.Leu8811Pro
XM_006715412.2:c.26417T>C (SYNE1)	XP_006715475.1:p.Leu8806Pro
XM_006715413.2:c.26405T>C (SYNE1)	XP_006715476.1:p.Leu8802Pro
XM_006715415.2:c.26363T>C (SYNE1)	XP_006715478.1:p.Leu8788Pro
XM_006715416.2:c.26348T>C (SYNE1)	XP_006715479.1:p.Leu8783Pro
XM_006715417.2:c.26333T>C (SYNE1)	XP_006715480.1:p.Leu8778Pro
XM_006715420.2:c.26321T>C (SYNE1)	XP_006715483.1:p.Leu8774Pro
XM_006715421.2:c.26318T>C (SYNE1)	XP_006715484.1:p.Leu8773Pro
XM_006715423.2:c.*138T>C (SYNE1)	XP_006715486.1:n.*138T>C
XM_006715424.2:c.*138T>C (SYNE1)	XP_006715487.1:n.*138T>C
XM_006715425.2:c.*138T>C (SYNE1)	XP_006715488.1:n.*138T>C
XM_011535641.2:c.26471T>C (SYNE1)	XP_011533943.1:p.Leu8824Pro
XM_011535642.2:c.26459T>C (SYNE1)	XP_011533944.1:p.Leu8820Pro
XM_011535645.2:c.24242T>C (SYNE1)	XP_011533947.1:p.Leu8081Pro
XM_017010608.1:c.26474T>C (SYNE1)	XP_016866097.1:p.Leu8825Pro
XM_017010609.1:c.26474T>C (SYNE1)	XP_016866098.1:p.Leu8825Pro
XM_017010610.1:c.26453T>C (SYNE1)	XP_016866099.1:p.Leu8818Pro
XM_017010611.2:c.26447T>C (SYNE1)	XP_016866100.1:p.Leu8816Pro
XM_017010612.1:c.26396T>C (SYNE1)	XP_016866101.1:p.Leu8799Pro
XM_017010613.1:c.26360T>C (SYNE1)	XP_016866102.1:p.Leu8787Pro
XM_017010614.1:c.26318T>C (SYNE1)	XP_016866103.1:p.Leu8773Pro
XM_017010615.1:c.26207T>C (SYNE1)	XP_016866104.1:p.Leu8736Pro
XM_017010616.1:c.*138T>C (SYNE1)	XP_016866105.1:n.*138T>C
XM_017010617.1:c.*138T>C (SYNE1)	XP_016866106.1:n.*138T>C
XM_017010618.1:c.*138T>C (SYNE1)	XP_016866107.1:n.*138T>C
XM_017010619.1:c.24749T>C (SYNE1)	XP_016866108.1:p.Leu8250Pro
NM_182961.4:c.26327T>C (SYNE1) MANE Select	NP_892006.3:p.Leu8776Pro
NM_001328100.2:c.851-2763A>G (ESR1)	NP_001315029.1:n.851-2763A>G
NM_001347701.2:c.*138T>C (SYNE1)	NP_001334630.1:n.*138T>C
NM_001347702.2:c.2861T>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu954Pro
NM_033071.5:c.26183T>C (SYNE1)	NP_149062.2:p.Leu8728Pro